HIST1H1E explained

Histone H1.4 is a protein that in humans is encoded by the HIST1H1E gene.^{[1] [2] [3]}

Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6.

HIST1H1E syndrome

HIST1H1E syndrome is a rare autosomal dominant disorder caused by a heterozygous pathogenic variant in the HIST1H1E gene, which is characterized by a set of recognizable clinical features such as hypotonia, intellectual disability, behavioral issues, skeletal, testes (undescended) and thyroid, heart anomalies, and ectodermal issues.^[4]

Further reading

• Ohe Y, Hayashi H, Iwai K . Human spleen histone H1. Isolation and amino acid sequence of a main variant, H1b . J. Biochem. . 100 . 2 . 359–68 . 1986 . 3782055 . 10.1093/oxfordjournals.jbchem.a121722.
• Strom R . Specific variants of H1 histone regulate CpG methylation in eukaryotic DNA . Gene . 157 . 1–2 . 253–6 . 1995 . 7607502 . 10.1016/0378-1119(95)91236-S . Santoro R . D'Erme M . Mastrantonio . S . Reale . A . Marenzi . S . Zardo . G . Caiafa . P .
• Albig W . All known human H1 histone genes except the H1(0) gene are clustered on chromosome 6 . Genomics . 16 . 3 . 649–54 . 1993 . 8325638 . 10.1006/geno.1993.1243 . Drabent B . Kunz J . Kalff-Suske . M . Grzeschik . KH . Doenecke . D .
• Albig W . Human histone gene organization: nonregular arrangement within a large cluster . Genomics . 40 . 2 . 314–22 . 1997 . 9119399 . 10.1006/geno.1996.4592 . Kioschis P . Poustka A . Meergans . K . Doenecke . D .
• Albig W, Doenecke D . The human histone gene cluster at the D6S105 locus . Hum. Genet. . 101 . 3 . 284–94 . 1998 . 9439656 . 10.1007/s004390050630 . 38539096 .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . Feingold EA . Grouse LH . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Morrison H, Jeppesen P . Allele-specific underacetylation of histone H4 downstream from promoters is associated with X-inactivation in human cells . Chromosome Res. . 10 . 7 . 579–95 . 2003 . 12498347 . 10.1023/A:1020966719605 . 21076644 .
• Mungall AJ . The DNA sequence and analysis of human chromosome 6 . Nature . 425 . 6960 . 805–11 . 2003 . 14574404 . 10.1038/nature02055 . Palmer SA . Sims SK . Edwards . C. A. . Ashurst . J. L. . Wilming . L. . Jones . M. C. . Horton . R. . Hunt . S. E. . 2003Natur.425..805M . free .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . Wagner L . Feingold EA . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Garcia BA . Characterization of phosphorylation sites on histone H1 isoforms by tandem mass spectrometry . J. Proteome Res. . 3 . 6 . 1219–27 . 2005 . 15595731 . 10.1021/pr0498887 . Busby SA . Barber CM . Shabanowitz . Jeffrey . Allis . C. David . Hunt . Donald F. .
• Andersen JS . Nucleolar proteome dynamics . Nature . 433 . 7021 . 77–83 . 2005 . 15635413 . 10.1038/nature03207 . Lam YW . Leung AK . Ong . Shao-En . Lyon . Carol E. . Lamond . Angus I. . Mann . Matthias . 2005Natur.433...77A . 4344740 .
• Daujat S . HP1 binds specifically to Lys26-methylated histone H1.4, whereas simultaneous Ser27 phosphorylation blocks HP1 binding . J. Biol. Chem. . 280 . 45 . 38090–5 . 2006 . 16127177 . 10.1074/jbc.C500229200 . Zeissler U . Waldmann T . Happel . N . Schneider . R . free .
• Olsen JV . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . Blagoev B . Gnad F . Macek . Boris . Kumar . Chanchal . Mortensen . Peter . Mann . Matthias . 7827573 . free.
• Trojer P . L3MBTL1, a histone-methylation-dependent chromatin lock . Cell . 129 . 5 . 915–28 . 2007 . 17540172 . 10.1016/j.cell.2007.03.048 . Li G . Sims RJ . Vaquero . Alejandro . Kalakonda . Nagesh . Boccuni . Piernicola . Lee . Donghoon . Erdjument-Bromage . Hediye . Tempst . Paul . 16425537 . free .

Notes and References

1. Albig W, Kardalinou E, Drabent B, Zimmer A, Doenecke D . Isolation and characterization of two human H1 histone genes within clusters of core histone genes . Genomics . 10 . 4 . 940–8 . Nov 1991 . 1916825 . 10.1016/0888-7543(91)90183-F .
2. Marzluff WF, Gongidi P, Woods KR, Jin J, Maltais LJ . The human and mouse replication-dependent histone genes . Genomics . 80 . 5 . 487–98 . Oct 2002 . 12408966 . 10.1016/S0888-7543(02)96850-3 .
3. Web site: Entrez Gene: HIST1H1E histone cluster 1, H1e.
4. Book: GeneReviews. Deepika. Burkardt. Katrina. Tatton-Brown. HIST1H1E Syndrome . Margaret P.. Adam. Ghayda M.. Mirzaa. Roberta A.. Pagon. Stephanie E.. Wallace. Lora JH. Bean. Karen W.. Gripp. Anne. Amemiya. October 3, 1993. University of Washington, Seattle. PubMed. 33270410.